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Results: 13

Related Articles by Review for PubMed (Select 18252223)

1.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J.

Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24.

2.

Clinical and molecular contributions to the understanding of X-linked mental retardation.

Stevenson RE, Schwartz CE.

Cytogenet Genome Res. 2002;99(1-4):265-75. Review.

PMID:
12900574
3.

HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.

Yang SY, He XY, Miller D.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):36-42. Epub 2007 Jul 6. Review.

PMID:
17618155
4.

X-linked mental retardation.

Lisik MZ, Sieron AL.

Med Sci Monit. 2008 Nov;14(11):RA221-9. Review.

PMID:
18971887
5.

Detection and validation of copy number variation in X-linked mental retardation.

Bauters M, Weuts A, Vandewalle J, Nevelsteen J, Marynen P, Van Esch H, Froyen G.

Cytogenet Genome Res. 2008;123(1-4):44-53. doi: 10.1159/000184691. Epub 2009 Mar 11. Review.

PMID:
19287138
6.

High-resolution genomic microarrays for X-linked mental retardation.

Lugtenberg D, Veltman JA, van Bokhoven H.

Genet Med. 2007 Sep;9(9):560-5. Review.

PMID:
17873643
7.

[X-linked mental retardation--treatment scheme].

Lisik MZ, Sieroń AL.

Wiad Lek. 2008;61(4-6):146-53. Review. Polish.

PMID:
18939366
8.

[X-linked mental retardation].

Billuart P, Chelly J, Gilgenkrantz S.

Med Sci (Paris). 2005 Nov;21(11):947-53. Review. French.

9.

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

Zschocke J.

J Inherit Metab Dis. 2012 Jan;35(1):81-9. doi: 10.1007/s10545-011-9415-4. Epub 2011 Nov 30. Review.

PMID:
22127393
10.

Advances in X-linked mental retardation.

Stevenson RE.

Curr Opin Pediatr. 2005 Dec;17(6):720-4. Review.

PMID:
16282777
11.

XLMR genes: update 2007.

Chiurazzi P, Schwartz CE, Gecz J, Neri G.

Eur J Hum Genet. 2008 Apr;16(4):422-34. doi: 10.1038/sj.ejhg.5201994. Epub 2008 Jan 16. Review.

12.

X-linked mental retardation (XLMR): from clinical conditions to cloned genes.

Chiurazzi P, Tabolacci E, Neri G.

Crit Rev Clin Lab Sci. 2004;41(2):117-58. Review.

PMID:
15270552
13.

The genetic landscape of intellectual disability arising from chromosome X.

Gécz J, Shoubridge C, Corbett M.

Trends Genet. 2009 Jul;25(7):308-16. doi: 10.1016/j.tig.2009.05.002. Epub 2009 Jun 24. Review.

PMID:
19556021
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